Canonical Allele Identifier: CA395870935

Gene: NOD2

Linked Data

• ClinVar Variation Id: 2420794
• ClinVar RCV Id: RCV003121959
• dbSNP Id: rs750096604
• gnomAD v3: 16-50712019-G-T
• gnomAD v4: 16-50712019-G-T
• MyVariant Identifiers: chr16:g.50745930G>T (hg19) ; chr16:g.50712019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712019G>T , CM000678.2:g.50712019G>T	GRCh38
NC_000016.9:g.50745930G>T , CM000678.1:g.50745930G>T	GRCh37
NC_000016.8:g.49303431G>T	NCBI36
NG_007508.1:g.19881G>T , LRG_177:g.19881G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2027G>T	ENSP00000493088.1:p.Arg676Leu
ENST00000646677.2:c.2027G>T	ENSP00000496533.1:p.Arg676Leu
ENST00000641284.1:c.2027G>T	ENSP00000493088.1:p.Arg676Leu
ENST00000646677.1:c.2027G>T	ENSP00000496533.1:p.Arg676Leu
ENST00000647318.2:c.2027G>T MANE Select	ENSP00000495993.1:p.Arg676Leu
ENST00000300589.6:c.2108G>T	ENSP00000300589.2:p.Arg703Leu
NM_001293557.1:c.2027G>T	NP_001280486.1:p.Arg676Leu
NM_022162.2:c.2108G>T	NP_071445.1:p.Arg703Leu
XM_005256084.2:c.2027G>T	XP_005256141.1:p.Arg676Leu
XM_006721242.2:c.2027G>T	XP_006721305.1:p.Arg676Leu
XM_006721243.2:c.2027G>T	XP_006721306.1:p.Arg676Leu
XM_011523257.1:c.1604G>T	XP_011521559.1:p.Arg535Leu
XM_011523258.1:c.1604G>T	XP_011521560.1:p.Arg535Leu
XM_011523259.1:c.1442G>T	XP_011521561.1:p.Arg481Leu
XM_011523260.1:c.2027G>T	XP_011521562.1:p.Arg676Leu
XM_011523261.1:c.2027G>T	XP_011521563.1:p.Arg676Leu
XR_429725.2:n.2117G>T
XR_429726.2:n.2117G>T
XR_933387.1:n.2117G>T
XM_005256084.4:c.2027G>T	XP_005256141.1:p.Arg676Leu
XM_006721242.4:c.2027G>T	XP_006721305.1:p.Arg676Leu
XM_006721243.4:c.2027G>T	XP_006721306.1:p.Arg676Leu
XM_011523259.2:c.1442G>T	XP_011521561.1:p.Arg481Leu
XM_011523260.3:c.2027G>T	XP_011521562.1:p.Arg676Leu
XM_011523261.2:c.2027G>T	XP_011521563.1:p.Arg676Leu
XM_017023535.1:c.1535G>T	XP_016879024.1:p.Arg512Leu
XM_017023536.1:c.1442G>T	XP_016879025.1:p.Arg481Leu
XM_017023537.1:c.1442G>T	XP_016879026.1:p.Arg481Leu
XM_017023538.1:c.1442G>T	XP_016879027.1:p.Arg481Leu
XR_429725.3:n.2070G>T
XR_429726.3:n.2070G>T
XR_933387.2:n.2070G>T
NM_001293557.2:c.2027G>T	NP_001280486.1:p.Arg676Leu
NM_001370466.1:c.2027G>T MANE Select	NP_001357395.1:p.Arg676Leu
NM_022162.3:c.2108G>T	NP_071445.1:p.Arg703Leu
NR_163434.1:n.2092G>T